ClinVar Miner

List of variants reported as likely pathogenic for hereditary spastic paraplegia 4 by Revvity Omics, Revvity

Included ClinVar conditions (1):

Hereditary spastic paraplegia 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)	rs1553318347
NM_014946.4(SPAST):c.871-1G>A	rs1057524526

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